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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:anodontia
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Accession:DOID:13714 term browser browse the term
Definition:A tooth disease that is characterized by complete absence of permanent teeth. (DO)
Synonyms:exact_synonym: Developmental absence of tooth;   Familial Tooth Ageneses;   Familial Tooth Agenesis;   Hypodontia;   Tooth agenesis, selective, with or without orofacial cleft;   complete absence of teeth;   total anodontia of permanent and deciduous teeth
 narrow_synonym: HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT;   Non-syndromic oligodontia;   PARTIAL CONGENITAL ABSENCE OF TEETH;   TOOTH AGENESIS, FAMILIAL TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT
 primary_id: MESH:D000848
 xref: GARD:5818;   ICD10CM:K00.0;   ICD9CM:520.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
anodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chr11:108,917,828...108,950,783
Ensembl chr11:108,920,349...108,950,783
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr19:30,545,876...30,549,496
Ensembl chr19:30,545,863...30,549,665
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypodontia
ClinVar Annotator: match by term: Partial congenital absence of teeth
ClinVar PMID:11295832, PMID:12949972, PMID:19278982, PMID:19623212, PMID:19921643, PMID:21357618, PMID:21457804, PMID:22350046, PMID:23553579, PMID:24033266, PMID:24487376, PMID:24664614, PMID:25741868, PMID:26325558, PMID:26345974, PMID:26753551, PMID:27144394, PMID:28492532 NCBI chr  X:99,975,606...100,400,760
Ensembl chr  X:99,975,606...100,400,762
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Irx5 Iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 8:92,357,796...92,361,456
Ensembl chr 8:92,357,625...92,376,286
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874, PMID:25899461 NCBI chr19:5,740,900...5,758,536
Ensembl chr19:5,740,904...5,758,532
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
CTD PMID:8696335 RGD:1600484 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: TOOTH AGENESIS, FAMILIAL
ClinVar Annotator: match by term: Hypodontia
ClinVar PMID:12605438, PMID:15615874, PMID:16479262, PMID:19429910, PMID:22581971, PMID:26571067, PMID:28492532, PMID:28847717 NCBI chr12:56,691,693...56,712,824
Ensembl chr12:56,691,767...56,712,822
JBrowse link
ADULT syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838, PMID:8737655, PMID:9443880, PMID:11462173, PMID:11528512, PMID:11929852, PMID:16114047, PMID:16724007, PMID:16740912, PMID:17041931, PMID:17431922, PMID:18603493, PMID:18626511, PMID:19530185, PMID:19781362, PMID:20543567, PMID:21204238, PMID:25741868, PMID:27469932, PMID:28492532 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
ClinVar Annotator: match by OMIM:612132
OMIM
ClinVar
PMID:14523047, PMID:15337789, PMID:17931563, PMID:18412279, PMID:23708964, PMID:23864385, PMID:23870671, PMID:24033266, PMID:25741868, PMID:26888281, PMID:27577878, PMID:28417298, PMID:28492532, PMID:29948576 NCBI chr12:55,489,409...55,492,647
Ensembl chr12:55,489,410...55,492,647
JBrowse link
Anodontia of Permanent Dentition term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Absence of permanent teeth ClinVar PMID:10655546, PMID:11774072, PMID:11980847, PMID:14507861, PMID:16688110, PMID:16735991, PMID:16735994, PMID:17563717, PMID:17591938, PMID:17718864, PMID:18622259, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:21081970, PMID:21168818, PMID:23028769, PMID:24033266, PMID:24281366, PMID:25741868, PMID:25978063, PMID:27408750, PMID:27508083, PMID:27535533, PMID:28384041, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IEA OMIM:180500 MouseDO NCBI chr 4:133,964,739...133,967,991
Ensembl chr 4:133,964,738...133,968,650
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IEA
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
MouseDO
CTD
PMID:8944018, PMID:9685346, PMID:10490637, PMID:10502778, PMID:10644443, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
ClinVar Annotator: match by OMIM:615821
OMIM
ClinVar
PMID:16628197, PMID:16774985, PMID:20940358, PMID:21606396, PMID:22795705, PMID:22949226, PMID:24033266, PMID:25225338, PMID:25351510, PMID:25741868, PMID:26332594, PMID:26604139, PMID:26833927, PMID:28492532 NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:8696334 RGD:1598881 NCBI chr  X:99,975,606...100,400,760
Ensembl chr  X:99,975,606...100,400,762
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:97,333,837...97,377,234
Ensembl chr  X:97,333,840...97,377,216
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:25741868 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by OMIM:129490
OMIM
ClinVar
PMID:10431241, PMID:11035039, PMID:15013427, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18854857, PMID:20236127, PMID:20979233, PMID:23401279, PMID:24033266, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532, PMID:10431241 RGD:1598883 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by OMIM:129490
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17354266 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr10:58,497,699...58,576,244
Ensembl chr10:58,497,948...58,576,244
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:224900
OMIM
ClinVar
PMID:10431241, PMID:11035039, PMID:11279189, PMID:15013427, PMID:15373768, PMID:16435307, PMID:17125505, PMID:18231121, PMID:18816645, PMID:20236127, PMID:20979233, PMID:21771270, PMID:22032522, PMID:23401279, PMID:23991204, PMID:24641098, PMID:24884697, PMID:25741868, PMID:26336973, PMID:27305980, PMID:27657131, PMID:28492532 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by OMIM:224900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE ClinVar PMID:28492532 NCBI chr10:58,446,852...58,494,155
Ensembl chr10:58,446,920...58,494,356
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by OMIM:614940
OMIM
ClinVar
PMID:17354266, PMID:20222921, PMID:20979233, PMID:21626677, PMID:25741868, PMID:28492532 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by OMIM:614941 OMIM
ClinVar
PMID:9245989, PMID:11780064, PMID:17354266, PMID:26991760 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE ClinVar
OMIM
PMID:27838789 NCBI chr 4:133,518,733...133,530,790
Ensembl chr 4:133,518,963...133,530,790
JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE OMIM
ClinVar
PMID:30425301 NCBI chr19:5,344,705...5,349,574
Ensembl chr19:5,344,705...5,349,574
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 1 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Odontotrichomelic syndrome
ClinVar
OMIM
PMID:9180938, PMID:9298746, PMID:23602711, PMID:24033266, PMID:25045128, PMID:23602711 RGD:9684854 NCBI chr 6:87,133,853...87,335,809
Ensembl chr 6:87,133,853...87,335,821
JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A IEA
ISO
IMP
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
MouseDO
ClinVar
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:31028034 RGD:14398763 NCBI chr  X:99,975,606...100,400,760
Ensembl chr  X:99,975,606...100,400,762
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:97,333,837...97,377,234
Ensembl chr  X:97,333,840...97,377,216
JBrowse link
G Edar ectodysplasin-A receptor IEA
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
PMID:18065779, PMID:18561327, PMID:18704500, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28808699 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar PMID:20222921, PMID:20979233, PMID:21626677, PMID:25741868, PMID:28492532, PMID:22013926 RGD:14398762 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr  X:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr10:58,446,852...58,494,155
Ensembl chr10:58,446,920...58,494,356
JBrowse link
G Traf6 TNF receptor-associated factor 6 IEA OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:101,678,420...101,701,668
Ensembl chr 2:101,678,429...101,701,669
JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr13:117,602,320...117,981,028
Ensembl chr13:117,602,320...117,987,418
JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258, PMID:12605447, PMID:17159124, PMID:20640464, PMID:21855841, PMID:22036171, PMID:25339210, PMID:25741868, PMID:26096995, PMID:26752647, PMID:27029625, PMID:27521716, PMID:27535217, PMID:28459997, PMID:28492532, PMID:30414627, PMID:30847471, PMID:31637490, PMID:32214227 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868, PMID:27029625 NCBI chr14:24,490,678...24,496,960
Ensembl chr14:24,487,125...24,496,959
JBrowse link
Oligodontia-Colorectal Cancer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome
ClinVar Annotator: match by OMIM:608615
OMIM
ClinVar
PMID:10330403, PMID:11017067, PMID:12101426, PMID:15042511, PMID:15841489, PMID:16820935, PMID:16941501, PMID:17373666, PMID:19065536, PMID:21069480, PMID:21294210, PMID:21416598, PMID:21472303, PMID:21476993, PMID:21520333, PMID:21541676, PMID:21626677, PMID:22581971, PMID:23169527, PMID:23838596, PMID:24033266, PMID:24581859, PMID:25236910, PMID:25260786, PMID:25637381, PMID:25741868, PMID:26025668, PMID:26681312, PMID:27090353, PMID:27234654, PMID:27300758, PMID:27491081, PMID:27696107, PMID:28492532, PMID:28577310, PMID:28944238, PMID:29114927, PMID:29212164, PMID:29371908, PMID:29641532, PMID:30311386, PMID:30374176, PMID:30760879, PMID:31285513 NCBI chr11:108,917,828...108,950,783
Ensembl chr11:108,920,349...108,950,783
JBrowse link
G Gna13 guanine nucleotide binding protein, alpha 13 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr11:109,362,794...109,401,369
Ensembl chr11:109,362,831...109,401,369
JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome ClinVar PMID:28492532 NCBI chr11:109,225,348...109,298,181
Ensembl chr11:109,225,355...109,298,129
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
JBrowse link
solitary median maxillary central incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome
ClinVar Annotator: match by term: Single maxillary central incisor
ClinVar Annotator: match by OMIM:147250
OMIM
ClinVar
PMID:9302262, PMID:11471164, PMID:12567406, PMID:15103725, PMID:25741868, PMID:30311386 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Six3 sine oculis-related homeobox 3 ISO ClinVar Annotator: match by term: Single upper central incisor ClinVar PMID:18791198, PMID:19346217, PMID:20157829, PMID:26080100, PMID:26467025, PMID:28492532 NCBI chr17:85,613,608...85,626,191
Ensembl chr17:85,613,608...85,629,302
JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
ClinVar Annotator: match by term: Tooth-and-Nail Syndrome
ClinVar Annotator: match by OMIM:189500
OMIM
ClinVar
PMID:9484139, PMID:11369996, PMID:12807959, PMID:21448236, PMID:23991204, PMID:25741868, PMID:28492532 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    Stomatognathic Diseases 956
      tooth disease 272
        anodontia 39
          ADULT syndrome 1
          Aloi Tomasini Isaia Syndrome 0
          Anodontia of Permanent Dentition 1
          Axenfeld-Rieger syndrome type 1 5
          Axenfeld-Rieger syndrome type 2 0
          Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
          Cleft Palate, Deafness, and Oligodontia 0
          Deafness Oligodontia Syndrome 0
          Dermatoosteolysis Kirghizian Type 0
          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
          Dysmyelinating Leukodystrophy with Oligodontia 2
          Ectodermal Dysplasia, Trichoodontoonychial Type 0
          Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
          Hypodontia Oligodontia with Orofacial Cleft 0
          Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Mehta Lewis Patton Syndrome 0
          Microdontia Hypodontia Short Stature 0
          Oligodontia-Colorectal Cancer Syndrome 3
          Pinheiro Freire-Maia Miranda Syndrome 0
          Schopf-Schulz-Passarge syndrome 1
          Split-Hand and Split-Foot With Hypodontia 0
          Taurodontia, Absent Teeth, Sparse Hair 0
          Thai Symphalangism Syndrome 0
          Thumb Deformity, Alopecia, Pigmentation Anomaly 0
          X-Linked Hypodontia 0
          Zadik Barak Levin Syndrome 0
          hypohidrotic ectodermal dysplasia + 13
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
          solitary median maxillary central incisor 2
          tooth and nail syndrome 1
Path 2
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      nervous system disease 10374
        sensory system disease 4966
          mouth disease 731
            tooth disease 272
              Tooth Abnormalities 146
                anodontia 39
                  ADULT syndrome 1
                  Aloi Tomasini Isaia Syndrome 0
                  Anodontia of Permanent Dentition 1
                  Axenfeld-Rieger syndrome type 1 5
                  Axenfeld-Rieger syndrome type 2 0
                  Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                  Cleft Palate, Deafness, and Oligodontia 0
                  Deafness Oligodontia Syndrome 0
                  Dermatoosteolysis Kirghizian Type 0
                  Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
                  Dysmyelinating Leukodystrophy with Oligodontia 2
                  Ectodermal Dysplasia, Trichoodontoonychial Type 0
                  Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
                  Hypodontia Oligodontia with Orofacial Cleft 0
                  Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
                  Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
                  Mehta Lewis Patton Syndrome 0
                  Microdontia Hypodontia Short Stature 0
                  Oligodontia-Colorectal Cancer Syndrome 3
                  Pinheiro Freire-Maia Miranda Syndrome 0
                  Schopf-Schulz-Passarge syndrome 1
                  Split-Hand and Split-Foot With Hypodontia 0
                  Taurodontia, Absent Teeth, Sparse Hair 0
                  Thai Symphalangism Syndrome 0
                  Thumb Deformity, Alopecia, Pigmentation Anomaly 0
                  X-Linked Hypodontia 0
                  Zadik Barak Levin Syndrome 0
                  hypohidrotic ectodermal dysplasia + 13
                  hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
                  solitary median maxillary central incisor 2
                  tooth and nail syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.